Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TBC1D16 Gene

Aliases for TBC1D16 Gene

  • TBC1 Domain Family Member 16 2 3 5
  • TBC1 Domain Family, Member 16 2
  • CTD-2529O21.1 3

External Ids for TBC1D16 Gene

Previous GeneCards Identifiers for TBC1D16 Gene

  • GC17M078609
  • GC17M078611
  • GC17M075513
  • GC17M077913
  • GC17M073354
  • GC17M077907

Summaries for TBC1D16 Gene

GeneCards Summary for TBC1D16 Gene

TBC1D16 (TBC1 Domain Family Member 16) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is MIR4750.

UniProtKB/Swiss-Prot for TBC1D16 Gene

  • May act as a GTPase-activating protein for Rab family protein(s).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D16 Gene

Genomics for TBC1D16 Gene

Regulatory Elements for TBC1D16 Gene

Enhancers for TBC1D16 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F079984 1.8 FANTOM5 Ensembl ENCODE 12 +44.2 44204 14.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 EIF4A3 LOC100294362 CCDC40 LOC105371918 CBX2 TBC1D16 SGSH LOC105371920 ENGASE RNF213
GH17F080068 1.2 Ensembl ENCODE 12.6 -34.4 -34402 3.9 PKNOX1 ZFP64 ARID4B DMAP1 YBX1 ZNF48 YY1 ZNF121 GATA2 FOS GAA CCDC40 TBC1D16 EIF4A3 CBX2 MIR1268B GC17P080040
GH17F079923 1.6 FANTOM5 Ensembl ENCODE 8.4 +106.9 106898 11.7 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 GLIS2 ZNF143 FOS SP5 TBC1D16 LINC01979 CBX2 PIR34246
GH17F080034 1.3 FANTOM5 ENCODE 6.8 -0.2 -227 2.8 ZFP64 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 YY1 SLC30A9 GLIS2 CCDC40 LOC105371918 GAA TBC1D16
GH17F079935 1 Ensembl ENCODE 8.8 +99.2 99167 3.4 PKNOX1 KLF17 FEZF1 EBF1 ZNF2 GLIS2 PATZ1 ZNF548 KLF8 ZBTB20 EIF4A3 TBC1D16 GC17M079934 PIR34246
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBC1D16 on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D16 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001354810 -233 3000 ZFP64 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 YY1 SLC30A9 GLIS2

Genomic Location for TBC1D16 Gene

Chromosome:
17
Start:
79,932,343 bp from pter
End:
80,035,867 bp from pter
Size:
103,525 bases
Orientation:
Minus strand

Genomic View for TBC1D16 Gene

Genes around TBC1D16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D16 Gene

Proteins for TBC1D16 Gene

  • Protein details for TBC1D16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBP0-TBC16_HUMAN
    Recommended name:
    TBC1 domain family member 16
    Protein Accession:
    Q8TBP0
    Secondary Accessions:
    • B9A6L7
    • I3L1E0
    • I3L4U2
    • Q8N3Z4
    • Q96DH7

    Protein attributes for TBC1D16 Gene

    Size:
    767 amino acids
    Molecular mass:
    86372 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH01525.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D16 Gene

Post-translational modifications for TBC1D16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBC1D16 Gene

Domains & Families for TBC1D16 Gene

Protein Domains for TBC1D16 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D16 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TBP0

UniProtKB/Swiss-Prot:

TBC16_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D16: view

No data available for Gene Families for TBC1D16 Gene

Function for TBC1D16 Gene

Molecular function for TBC1D16 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein for Rab family protein(s).

Gene Ontology (GO) - Molecular Function for TBC1D16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,IDA 23019362
GO:0005515 protein binding IPI 22354992
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D16: view
genes like me logo Genes that share phenotypes with TBC1D16: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D16 Gene

Localization for TBC1D16 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D16 gene
Compartment Confidence
cytosol 5
endosome 5
mitochondrion 2
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TBC1D16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IDA 23019362
GO:0005829 cytosol IDA 23019362
genes like me logo Genes that share ontologies with TBC1D16: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBC1D16 Gene

Pathways & Interactions for TBC1D16 Gene

genes like me logo Genes that share pathways with TBC1D16: view

Pathways by source for TBC1D16 Gene

2 Reactome pathways for TBC1D16 Gene

Gene Ontology (GO) - Biological Process for TBC1D16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001919 regulation of receptor recycling IDA 23019362
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0090630 activation of GTPase activity IBA --
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D16: view

No data available for SIGNOR curated interactions for TBC1D16 Gene

Transcripts for TBC1D16 Gene

Unigene Clusters for TBC1D16 Gene

TBC1 domain family, member 16:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D16 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: - - - -
SP2: - -
SP3: -
SP4: -
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for TBC1D16 Gene

GeneLoc Exon Structure for
TBC1D16
ECgene alternative splicing isoforms for
TBC1D16

Expression for TBC1D16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D16 Gene

Protein differential expression in normal tissues from HIPED for TBC1D16 Gene

This gene is overexpressed in Adipocyte (68.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D16 Gene



Protein tissue co-expression partners for TBC1D16 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D16 Gene:

TBC1D16

SOURCE GeneReport for Unigene cluster for TBC1D16 Gene:

Hs.369819
genes like me logo Genes that share expression patterns with TBC1D16: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D16 Gene

Orthologs for TBC1D16 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D16 34 35
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia TBC1D16 34 35
  • 88.39 (n)
cow
(Bos Taurus)
Mammalia TBC1D16 34 35
  • 86.74 (n)
mouse
(Mus musculus)
Mammalia Tbc1d16 34 16 35
  • 84.73 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d16 34
  • 84.64 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D16 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D16 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D16 34 35
  • 77.41 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D16 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d16 34
  • 68.62 (n)
Str.5438 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68883 34
zebrafish
(Danio rerio)
Actinopterygii tbc1d16 34 35
  • 72.37 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2556 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011218 34
  • 64.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5337 34 35
  • 56.51 (n)
worm
(Caenorhabditis elegans)
Secernentea tbc-16 34 35
  • 50.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP7 35
  • 17 (a)
OneToMany
Species where no ortholog for TBC1D16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D16 Gene

ENSEMBL:
Gene Tree for TBC1D16 (if available)
TreeFam:
Gene Tree for TBC1D16 (if available)

Paralogs for TBC1D16 Gene

Paralogs for TBC1D16 Gene

genes like me logo Genes that share paralogs with TBC1D16: view

Variants for TBC1D16 Gene

Sequence variations from dbSNP and Humsavar for TBC1D16 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs3752042 Benign 80,036,614(-) ACCAC(G/T)CGCGC upstream-variant-2KB
rs73437681 Benign 80,036,627(+) CGGCC(C/G/T)GGCCG upstream-variant-2KB
rs10083896 -- 79,995,046(+) tgtaa(C/T)cccag intron-variant, upstream-variant-2KB
rs10445409 -- 80,016,222(+) GTTCA(C/T)AGAGA intron-variant
rs1047623 -- 79,938,212(-) TCCGC(C/G)GGGGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TBC1D16 Gene

Variant ID Type Subtype PubMed ID
nsv960212 CNV deletion 23825009
nsv833561 CNV loss 17160897
nsv828121 CNV loss 20364138
nsv576128 CNV gain 21841781
nsv527410 CNV loss 19592680
nsv520743 CNV gain 19592680
nsv517686 CNV loss 19592680
nsv470615 CNV loss 18288195
nsv469865 CNV loss 16826518
nsv1133414 CNV deletion 24896259
nsv1117186 CNV tandem duplication 24896259
nsv1066606 CNV gain 25217958
esv3641359 CNV loss 21293372
esv3641358 CNV loss 21293372
esv3554847 CNV deletion 23714750
esv29117 CNV loss 19812545
esv2716355 CNV deletion 23290073
esv2716354 CNV deletion 23290073
esv2716353 CNV deletion 23290073
esv2671544 CNV deletion 23128226
esv2666144 CNV deletion 23128226
esv2642422 CNV insertion 19546169
esv2210925 CNV deletion 18987734
dgv572e199 CNV deletion 23128226

Variation tolerance for TBC1D16 Gene

Residual Variation Intolerance Score: 45.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D16 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D16 Gene

Disorders for TBC1D16 Gene

Relevant External Links for TBC1D16

Genetic Association Database (GAD)
TBC1D16
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D16

No disorders were found for TBC1D16 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D16 Gene

Publications for TBC1D16 Gene

  1. TBC1D16 is a Rab4A GTPase activating protein that regulates receptor recycling and EGF receptor signaling. (PMID: 23019362) Goueli B.S. … Pfeffer S.R. (Proc. Natl. Acad. Sci. U.S.A. 2012) 2 3 64
  2. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. Epigenetic activation of a cryptic TBC1D16 transcript enhances melanoma progression by targeting EGFR. (PMID: 26030178) Vizoso M. … Esteller M. (Nat. Med. 2015) 3 64

Products for TBC1D16 Gene

Sources for TBC1D16 Gene

Content
Loading form....